Mutagenetix > Incidental Mutations

Incidental Mutation 'R0494:Mitf'

42628

Institutional Source

Beutler Lab

Gene Symbol

Mitf

Ensembl Gene

ENSMUSG00000035158

Gene Name

melanogenesis associated transcription factor

Synonyms

wh, mi, Gsfbcc2, bHLHe32, BCC2

MMRRC Submission

038691-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.922) question?

Stock #

R0494 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

97807052-98021349 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 97994429 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 186 (G186S)

Ref Sequence

ENSEMBL: ENSMUSP00000108965 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043628] [ENSMUST00000043637] [ENSMUST00000101123] [ENSMUST00000113339] [ENSMUST00000139462] [ENSMUST00000203884] [ENSMUST00000203938]

Predicted Effect

probably benign
Transcript: ENSMUST00000043628
AA Change: G104S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000044459
Gene: ENSMUSG00000035158
AA Change: G104S

Domain	Start	End	E-Value	Type
HLH	210	263	5.53e-17	SMART
Pfam:DUF3371	290	416	9.5e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000043637
AA Change: G211S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000044938
Gene: ENSMUSG00000035158
AA Change: G211S

Domain	Start	End	E-Value	Type
low complexity region	34	44	N/A	INTRINSIC
Pfam:MITF_TFEB_C_3_N	56	228	3.1e-52	PFAM
HLH	317	370	5.53e-17	SMART
Pfam:DUF3371	397	522	2.7e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000101123
AA Change: G195S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000098683
Gene: ENSMUSG00000035158
AA Change: G195S

Domain	Start	End	E-Value	Type
coiled coil region	44	74	N/A	INTRINSIC
HLH	301	354	5.53e-17	SMART
Pfam:DUF3371	381	507	4.8e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113339
AA Change: G186S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000108965
Gene: ENSMUSG00000035158
AA Change: G186S

Domain	Start	End	E-Value	Type
coiled coil region	35	65	N/A	INTRINSIC
HLH	292	345	5.53e-17	SMART
Pfam:DUF3371	372	498	4.6e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139462
AA Change: D104N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000203884
AA Change: G211S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000145132
Gene: ENSMUSG00000035158
AA Change: G211S

Domain	Start	End	E-Value	Type
low complexity region	34	44	N/A	INTRINSIC
Pfam:MITF_TFEB_C_3_N	56	228	2.2e-49	PFAM
HLH	311	364	2.3e-19	SMART
Pfam:DUF3371	391	516	1.9e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203938
AA Change: G48S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000144988
Gene: ENSMUSG00000035158
AA Change: G48S

Domain	Start	End	E-Value	Type
Pfam:MITF_TFEB_C_3_N	7	60	2.2e-7	PFAM
HLH	148	201	2.3e-19	SMART
Pfam:DUF3371	228	353	9.2e-36	PFAM

Meta Mutation Damage Score

0.0812

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.1%

Validation Efficiency

97% (109/112)

MGI Phenotype

FUNCTION: This transcription factor serves at a critical point between extracellular signaling and downstream targets in cell specification in early eye and neural crest development. Mutant alleles have been identified that generate distinct phenotypes. Some of these alleles are being used to model the human diseases Waardenburg syndrome IIa and Tietz syndrome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations at this locus affect development of melanocytes, mast cells, osteoclasts and pigmented epithelium. Mutants variably display lack of pigment in coat and eye, microphthalmia, hearing loss, bone resorption anomalies, mast cell deficiency and lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182L06Rik	G	A	5: 9,420,723		probably null	Het
Aatf	T	C	11: 84,511,513	I116V	probably benign	Het
Abhd18	T	C	3: 40,916,688	F94S	probably damaging	Het
Adam28	T	A	14: 68,630,792		probably benign	Het
Amn1	A	T	6: 149,185,136		probably benign	Het
Arhgap32	T	C	9: 32,258,903	V993A	probably damaging	Het
Arhgap33	A	T	7: 30,524,496	S703T	probably damaging	Het
Arhgef1	T	C	7: 24,919,360		probably benign	Het
Atg2a	A	G	19: 6,253,377	Y1083C	probably damaging	Het
Atp2a3	T	C	11: 72,981,905	F760L	probably damaging	Het
B9d1	A	G	11: 61,512,445		probably benign	Het
Batf	C	T	12: 85,686,862		probably benign	Het
BC051019	T	A	7: 109,717,975	Y170F	probably benign	Het
Bphl	T	C	13: 34,037,771	*37Q	probably null	Het
Cab39l	T	C	14: 59,499,559	S43P	probably damaging	Het
Cad	A	G	5: 31,077,512		probably benign	Het
Cct4	T	G	11: 22,996,014	S119A	probably benign	Het
Cd163	G	A	6: 124,311,449	V280M	probably damaging	Het
Cd86	A	G	16: 36,618,637		probably benign	Het
Cdh23	G	A	10: 60,316,596		probably benign	Het
Cdhr5	A	G	7: 141,272,518	F145S	probably damaging	Het
Cdt1	T	C	8: 122,572,060	S479P	possibly damaging	Het
Ces2g	T	C	8: 104,966,567	V372A	probably benign	Het
Chrna3	T	C	9: 55,022,278	D92G	probably damaging	Het
Cndp1	A	G	18: 84,619,533	S359P	probably benign	Het
Cops4	A	G	5: 100,528,662	Q93R	probably damaging	Het
Dgka	G	C	10: 128,721,083		probably benign	Het
Dmp1	A	T	5: 104,212,208	D250V	probably damaging	Het
Dnajb2	C	T	1: 75,239,634		probably benign	Het
Dock9	T	C	14: 121,662,584	T113A	possibly damaging	Het
Egln3	T	A	12: 54,203,321	I81F	probably benign	Het
Elovl5	T	C	9: 77,960,917	V37A	probably benign	Het
Esco1	A	T	18: 10,594,940	N115K	probably benign	Het
Fat1	A	T	8: 44,950,542	N110I	probably damaging	Het
Fezf1	T	A	6: 23,246,055	K370N	probably damaging	Het
Galnt18	T	A	7: 111,554,564	K284N	probably damaging	Het
Glt8d1	C	A	14: 31,011,623	T355K	possibly damaging	Het
Gm13083	G	T	4: 143,616,156	V278F	probably benign	Het
Gm17455	G	A	10: 60,403,235	R93H	possibly damaging	Het
Gng8	T	A	7: 16,895,288	D46E	probably benign	Het
Gpx4	T	C	10: 80,056,177		probably benign	Het
Grk2	A	T	19: 4,291,319	N189K	probably damaging	Het
Grm5	T	C	7: 88,130,781	V1143A	probably benign	Het
Hibch	A	G	1: 52,902,896	E237G	possibly damaging	Het
Hipk2	C	T	6: 38,729,989	A682T	probably benign	Het
Hmcn1	G	T	1: 150,732,792		probably benign	Het
Htt	A	G	5: 34,821,844	D857G	possibly damaging	Het
Idh2	C	T	7: 80,098,257	A232T	probably damaging	Het
Igsf8	A	G	1: 172,318,698	E421G	probably benign	Het
Kif26a	T	A	12: 112,179,471		probably null	Het
Klhl26	T	C	8: 70,451,601	Y519C	probably damaging	Het
Lamc1	A	C	1: 153,246,936		probably null	Het
Mical3	A	T	6: 120,959,201	S1455T	possibly damaging	Het
Ms4a15	G	A	19: 10,981,358		probably benign	Het
Myo5b	A	G	18: 74,653,967	E481G	probably damaging	Het
Nanos3	C	T	8: 84,176,134	R133Q	probably damaging	Het
Nbeal2	C	A	9: 110,627,187	V1686L	probably damaging	Het
Nedd4l	T	G	18: 65,173,021	S335A	possibly damaging	Het
Nos1	A	T	5: 117,905,474	N605Y	probably damaging	Het
Nyx	C	A	X: 13,487,269	T454K	probably benign	Het
Olfr666	A	G	7: 104,893,271	L119P	probably damaging	Het
Olfr972	T	A	9: 39,873,402	N42K	probably damaging	Het
Pcdhb12	T	A	18: 37,438,095	F765I	probably benign	Het
Pex3	C	T	10: 13,527,788	G330R	probably damaging	Het
Pfkfb1	T	C	X: 150,634,613	Y339H	probably damaging	Het
Pias1	G	A	9: 62,887,311	Q26*	probably null	Het
Pik3cg	C	A	12: 32,204,546	V481L	possibly damaging	Het
Plcg2	C	T	8: 117,556,104	T108M	probably damaging	Het
Pon2	G	A	6: 5,267,059		probably benign	Het
Ppef2	A	T	5: 92,253,093		probably benign	Het
Ptpn22	A	G	3: 103,860,455	K18E	probably damaging	Het
Pum2	C	T	12: 8,721,736	Q360*	probably null	Het
Rab10	A	C	12: 3,252,723		probably null	Het
Ranbp2	T	G	10: 58,467,432	S809A	possibly damaging	Het
Rbms2	A	G	10: 128,133,670	V348A	probably benign	Het
Rnf213	A	G	11: 119,426,012	E988G	possibly damaging	Het
Rnf213	A	T	11: 119,443,120	M3052L	probably damaging	Het
Rpl14	C	A	9: 120,574,362		probably benign	Het
Rplp0	A	G	5: 115,559,872	Y13C	possibly damaging	Het
Ryr1	A	G	7: 29,003,793		probably benign	Het
Sac3d1	T	C	19: 6,118,294	E98G	probably damaging	Het
Scn10a	T	A	9: 119,624,100	D1242V	probably damaging	Het
Scnn1b	T	C	7: 121,899,458	Y74H	probably damaging	Het
Serpinb3a	C	T	1: 107,047,482	W198*	probably null	Het
Sf3b4	C	A	3: 96,173,701	D108E	probably damaging	Het
Shprh	T	C	10: 11,157,191	V307A	probably damaging	Het
Slc2a2	A	G	3: 28,727,277	D458G	probably benign	Het
Spata5	G	C	3: 37,432,163	D345H	possibly damaging	Het
Strc	T	C	2: 121,379,533	D103G	probably damaging	Het
Synrg	T	C	11: 84,019,543	I923T	probably benign	Het
Tango6	G	T	8: 106,735,682		probably benign	Het
Tas2r106	A	G	6: 131,678,576	L104P	probably damaging	Het
Tat	C	T	8: 109,991,684	P67L	probably damaging	Het
Tln2	A	C	9: 67,355,197	S593A	probably benign	Het
Tmem94	A	G	11: 115,794,781		probably null	Het
Tppp3	G	A	8: 105,468,172	A109V	probably benign	Het
Trank1	T	C	9: 111,391,293	F2366S	probably benign	Het
Trpc5	T	A	X: 144,481,396	Y155F	probably damaging	Het
Trpv1	A	G	11: 73,260,442	T451A	probably benign	Het
Ttc9	C	A	12: 81,631,649	A82E	probably damaging	Het
Ttll11	T	A	2: 35,944,874	N180I	probably damaging	Het
Ttn	T	C	2: 76,736,399	N28050S	possibly damaging	Het
Vmn2r73	G	T	7: 85,872,932	H66Q	probably benign	Het
Vmn2r92	C	T	17: 18,167,957	A408V	probably damaging	Het
Wnt3	G	A	11: 103,812,315	C208Y	probably damaging	Het
Zfp521	C	A	18: 13,845,268	C696F	probably damaging	Het
Zfp521	T	C	18: 13,846,870	D162G	probably damaging	Het
Zfp869	A	T	8: 69,706,404	H506Q	probably damaging	Het

Other mutations in Mitf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01407:Mitf	APN	6	98017931	missense	possibly damaging	0.69
IGL01516:Mitf	APN	6	98010390	splice site	probably null
IGL01617:Mitf	APN	6	97996428	missense	probably benign	0.00
IGL01875:Mitf	APN	6	98017895	missense	probably benign	0.22
R0010:Mitf	UTSW	6	97807281	missense	probably benign	0.25
R0010:Mitf	UTSW	6	97807281	missense	probably benign	0.25
R0079:Mitf	UTSW	6	97996440	missense	probably benign	0.00
R0381:Mitf	UTSW	6	97993143	missense	probably damaging	1.00
R0633:Mitf	UTSW	6	98003904	missense	probably damaging	0.98
R0829:Mitf	UTSW	6	98003908	missense	possibly damaging	0.46
R1189:Mitf	UTSW	6	98006125	missense	possibly damaging	0.67
R1459:Mitf	UTSW	6	98010467	missense	probably damaging	1.00
R1766:Mitf	UTSW	6	97941099	missense	probably damaging	1.00
R1864:Mitf	UTSW	6	98010422	missense	probably damaging	1.00
R1891:Mitf	UTSW	6	97941276	missense	probably benign	0.00
R3934:Mitf	UTSW	6	97993253	missense	probably damaging	1.00
R3936:Mitf	UTSW	6	97993253	missense	probably damaging	1.00
R4323:Mitf	UTSW	6	97991949	missense	probably benign	0.12
R5052:Mitf	UTSW	6	98010445	missense	possibly damaging	0.91
R5097:Mitf	UTSW	6	97996462	missense	possibly damaging	0.63
R5297:Mitf	UTSW	6	97994430	missense	probably benign	0.09
R5646:Mitf	UTSW	6	98013694	missense	probably damaging	1.00
R6109:Mitf	UTSW	6	97996468	missense	probably damaging	1.00
R6351:Mitf	UTSW	6	98003912	missense	possibly damaging	0.85
R6411:Mitf	UTSW	6	98010472	critical splice donor site	probably null
R7855:Mitf	UTSW	6	97993196	missense	probably damaging	1.00
R7904:Mitf	UTSW	6	98013710	missense	probably damaging	0.99
R7938:Mitf	UTSW	6	97993196	missense	probably damaging	1.00
R7987:Mitf	UTSW	6	98013710	missense	probably damaging	0.99
R8061:Mitf	UTSW	6	97993298	missense	probably damaging	0.98
Z1177:Mitf	UTSW	6	98006121	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TCTCTAATCTGGCCTCTACCAAAGCAC -3'
(R):5'- TCCCTCTCCGTATGACTGTGGGAAAC -3'

Sequencing Primer
(F):5'- ATTGTGCTCCTTGGTTAGCATC -3'
(R):5'- CCGTATGACTGTGGGAAACTTAAAG -3'

Posted On

2013-05-23